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Forensic craniofacial identification encompasses the practices of forensic facial approximation (aka facial reconstruction) and craniofacial superimposition within the field of forensic art in the United States. Training in forensic facial approximation methods historically has used plaster copies, high-cost commercially molded skulls, and photographs. Despite the increased accessibility of computed tomography (CT) and the numerous studies utilizing CT data to better inform facial approximation methods, 3D CT data have not yet been widely used to produce interactive resources or reference catalogs aimed at forensic art practitioner use or method standardization. There are many free, open-source 3D software packages that allow engagement in immersive studies of the relationships between the craniofacial skeleton and facial features and facilitate collaboration between researchers and practitioners. 3D CT software, in particular, allows the bone and soft tissue to be visualized simultaneously with tools such as transparency, clipping, and volume rendering of underlying tissues, allowing for more accurate analyses of bone to soft tissue relationships. Analyses and visualization of 3D CT data can not only facilitate basic research into facial variation and anatomical relationships relevant for reconstructions but can also lead to improved facial reconstruction guidelines. Further, skull and face surface models exported in digital 3D formats allow for 3D printing of custom reference models and novel training materials and modalities for practitioners. This chapter outlines the 3D resources that can be built from CT data for forensic craniofacial identification methods, including how to view 3D craniofacial CT data and modify surface models for 3D printing.

Several signal transduction pathways regulate the development of craniofacial structures during embryogenesis in a complex spatiotemporal manner. Among them, cytokine signaling mediated by signal transducer and activation of transcription 3 (STAT3) plays a key role in maintaining the capacity of stem cells for self-renewal and the ossification of the cranial bones. Mutations in the DNA-binding domain and SH2 (Src homology 2) domain of STAT3 transcription factor have been identified in patients with hyperimmunoglobulin-E syndrome, an autosomal dominant disorder characterized by immunodeficiency associated with craniofacial malformation and craniosynostosis, also known as Job’s syndrome. In this chapter, a brief overview of signal pathways involved in pattern formation in human craniofacial development is given with a particular focus on the cytokine-driven transcription factor STAT3.

The goals of orthodontic treatment are to correct the malocclusion and position the dentition in its most harmonious position in relation to the craniofacial structures. Traditional diagnostic data gathering approaches relied heavily on analyzing two-dimensional and static three-dimensional data such as radiographs and dental casts to obtain the most appropriate diagnosis for a given malocclusion and suggest the applicable treatment options accordingly. Digital three-dimensional data can be obtained, analyzed and measured using various three-dimensional imaging processes. These processes can also be merged into specialized software to allow the practitioner to visualize the craniofacial structures and dentition simultaneously, thus significantly increasing the accuracy of the diagnosis and treatment planning process. This chapter describes the digital three-dimensional imaging procedures and compares them to the conventional two-dimensional acquisition processes. The advantages of these technologies and the best practice of implementation are also described.

Craniofacial soft tissue malformations are a heterogeneous group of lesions involving different tissues like skin, muscles, vessels or even intracranial structures. Partly they are inherited, others develop spontaneously, and often distinct genetic mutations are known to be associated with the malformations and their development. Depending on their genetic and biological basis, often multiple organs are involved also outside the head and neck area and clinical signs and symptoms are not restricted to the craniofacial region. They can be differentiated into phakomatoses, nevoid skin malformations, vascular malformations and others. Commonly known phakomatoses are the nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome) and the different types of neurofibromatosis (e.g. Recklinghausen disease). Skin-related malformations and syndromes are congenital and acquired nevi, Gardner´s syndrome, epidermoid and dermoid cysts. The different subgroups of haemangioma, lymphangioma, pyogenic granuloma, arteriovenous fistula and arteriovenous malformations belong to the vascular malformations.

Motion-corrected fetal magnetic resonance imaging (MRI) is widely employed in large-scale fetal brain studies. However, the current processing pipelines and spatio-temporal atlases tend to omit craniofacial structures, which are known to be linked to genetic syndromes. In this work, we present the first spatio-temporal atlas of the fetal head that includes craniofacial features and covers 21 to 36 weeks gestational age range. Additionally, we propose a fully automated pipeline for fetal ocular biometry based on a 3D convolutional neural network (CNN). The extracted biometric indices are used for the growth trajectory analysis of changes in ocular metrics for 253 normal fetal subjects from the developing human connectome project (dHCP).

In this chapter, we review the technology of cranial and craniofacial navigation, from its beginnings to the present, making a brief historical and technical review of the elements that make up navigation and planning systems.

The craniofacial skeleton develops both spatially and temporally, whereby cranial sutures are involved in regulating growth and morphogenesis. Disrupting these molecular and cellular interactions can result in craniosynostosis, the premature fusion of cranial sutures, which restricts the growth of the skull and causes malformations perpendicular to the sutures affected. Facial deformities and functional CNS irregularities can also occur. Expansion of the cranial vault and reconstructive surgery are still the main course of treatment, however they present an increased morbidity risk to the infant. Whilst the etiology of non-syndromic craniosynostosis has still not been decoded, the gain-of-function mutations in FGFR1-3 and TWIST1 are responsible for over three quarters of the most common craniofacial syndromes. Animal models have been extremely valuable in dissecting the role of genes in the cranial sutures and for developing other non-surgical treatments. In this review we present several pharmacological and molecule methods for treating craniosynostosis in animal models, which have been tested by using in vitro and in vivo assays; we then present a discussion of their possible use in humans with a focus on tyrosine kinase inhibitors.

The craniofacial complex develops during the first trimester of pregnancy, but its final shaping, which is mainly dependent on genetic factors, extends into the second and third trimesters. It is intimately connected with the development of the brain because the numerous signals which control craniofacial development originate in the brain and vice versa. As a result, malformations of one organ may affect the development of the other. Craniofacial anomalies are either isolated, resulting from abnormal development of the first two embryonic pharyngeal arches, or part of multiple malformation syndromes affecting many other organs. They may stem from gene mutations, chromosomal aberrations, or environmental causes induced by teratogens. The craniofacial morphologic changes are not only cosmetic as they may often interfere with important functions such as chewing, swallowing, and respiration and/or cause hearing or visual impairment. We discussed only a small number of craniofacial malformations and their diagnosis and treatment. Following a brief description of the craniofacial development, we discussed oral clefts, craniofacial microsomia, and teratogens that may affect craniofacial development resulting in different malformations and the genetically determined craniosynostosis syndromes. The understanding of these malformations is important in medicine and in dentistry as the approach for diagnosis and treatment is generally multidisciplinary.

Syndromes affecting craniofacial and dental structures account for one-third of the congenital anomalies. Early diagnosis and treatment guided by an interdisciplinary team are of vital importance not only for an optimal outcome but also because these syndromes are associated often with life-threatening conditions. However, the affected craniofacial structures isolated or as part of a syndrome might not be identified early, especially in patients with unknown family history. Many craniofacial malformations and cognitive phenotypes are apparent only after the first years of life.

Disease classifications (taxonomies) are important tools in medicine. The classification of diseases plays an important role in defining the diagnosis, treatment, and mechanisms of human diseases even now. Craniofacial malformations are a “difficult-to-define group” of congenital anomalies named after the anatomical location of a given defect present at birth. Most craniofacial classification systems try to elaborate a disease-appearance relationship. According to working definitions, various approaches were done to classify craniofacial malformations (etiologic category (chromosomal, environmental, Mendelian, multifactorial, etc.); pathogenetic category (malformation, deformation, disruption, dysplasia); clinical category (developmental field complex, isolated defect, sequence, syndrome, etc.)). A new three-axis classification system is proposed that comprehensively includes etiologic, pathogenetic, and clinical parameters of all craniofacial malformations.

The osteotomies are an important armament for the aesthetic improvement of the face, changing the structural aspect of the face, mainly of the middle and lower third. The concept of bone support is important for plastic surgeons. They have a wide range of surgical procedures for treating facial cranial deformities or improving the aesthetic appearance of the face based on studies and personal experience.